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UniProtKB/Swiss-Prot P35869: Variant p.Arg554Lys

Aryl hydrocarbon receptor
Gene: AHR
Variant information

Variant position:  554
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Lysine (K) at position 554 (R554K, p.Arg554Lys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are large size and basic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  554
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  848
The length of the canonical sequence.

Location on the sequence:   SKNSDLYSIMKNLGIDFEDI  R HMQNEKFFRNDFSGEVDFRD
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SKNSDLYSIMKNLGIDFEDIRHMQNEKFFRNDFS--GEVDFRD

Mouse                         NKNNDLYNIMRNLGIDFEDIRSMQNEEFFRTDSTAAGEVDF

Rat                           NKNNDLYSIMRNLGIDFEDIRSMQNEEFFRTDSS--GEVDF

Rabbit                        NKNCDLYNIMKNLGVDFEDIKNMQNEEFFGADFS--GEVDF

Caenorhabditis elegans        ---HDVYHLTQY-----------------------------

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 11 – 848 Aryl hydrocarbon receptor


Literature citations

Polymorphisms of human Ah receptor gene are not involved in lung cancer.
Kawajiri K.; Watanabe J.; Eguchi H.; Nakachi K.; Kiyohara C.; Hayashi S.;
Pharmacogenetics 5:151-158(1995)
Cited for: VARIANT LYS-554;

Variation in induced CYP1A1 levels: relationship to CYP1A1, Ah receptor and GSTM1 polymorphisms.
Smart J.; Daly A.K.;
Pharmacogenetics 10:11-24(2000)
Cited for: VARIANTS LYS-554 AND ILE-570;

Polymorphisms of human aryl hydrocarbon receptor (AhR) gene in a French population: relationship with CYP1A1 inducibility and lung cancer.
Cauchi S.; Stucker I.; Solas C.; Laurent-Puig P.; Cenee S.; Hemon D.; Jacquet M.; Kremers P.; Beaune P.; Massaad-Massade L.;
Carcinogenesis 22:1819-1824(2001)
Cited for: VARIANTS LYS-554 AND VAL-786;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.